Evidence map›Paper›PMID 35896530›Full record

ArticleNature communications2022

Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.

Bhuwan Khatri, Kandice L Tessneer, Astrid Rasmussen, Farhang Aghakhanian, Tove Ragna Reksten, Adam Adler, Ilias Alevizos, Juan-Manuel Anaya, Lara A Aqrawi, Eva Baecklund and 59 more

Erratum issuedAbstract read
In one paragraph

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 67 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

67 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  14. Variants inInternational journal of molecular sciences · 2026
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7 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

69 authors.

Bhuwan KhatriGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.ORCID http://orcid.org/0000-0001-5456-2963
Kandice L TessneerGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Astrid RasmussenGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Farhang AghakhanianGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Tove Ragna RekstenArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.ORCID http://orcid.org/0000-0001-8704-4943
Adam AdlerNGS Core Laboratory, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Ilias AlevizosSalivary Disorder Unit, National Institute of Dental and Craniofacial Research, Bethesda, MD, USA.
Juan-Manuel AnayaCenter for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogotá, Colombia.ORCID http://orcid.org/0000-0002-6444-1249
Lara A AqrawiDepartment of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo, Oslo, Norway.
Eva BaecklundDepartment of Medical Sciences, Rheumatology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Johan G BrunDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Sara Magnusson BucherDepartment of Rheumatology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Maija-Leena ElorantaDepartment of Medical Sciences, Rheumatology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Fiona EngelkeDepartment of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.ORCID http://orcid.org/0000-0002-5673-1705
Helena Forsblad-d'EliaDepartment of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
Stuart B GlennGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Daniel HammenforsDepartment of Rheumatology, Haukeland University Hospital, Bergen, Norway.
Juliana Imgenberg-KreuzDepartment of Medical Sciences, Rheumatology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Janicke Liaaen JensenDepartment of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0003-4276-9611
Svein Joar Auglænd JohnsenDepartment of Internal Medicine, Clinical Immunology Unit, Stavanger University Hospital, Stavanger, Norway.ORCID http://orcid.org/0000-0002-1591-9250
Malin V JonssonDepartment of Clinical Science, University of Bergen, Bergen, Norway.ORCID http://orcid.org/0000-0001-5655-5513
Marika KvarnströmRheumatology Unity, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-4948-8380
Jennifer A KellyGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
He LiArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Thomas MandlRheumatology, Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden.ORCID http://orcid.org/0000-0002-7143-7088
Javier MartínInstituto de Biomedicina y Parasitología López-Neyra, Consejo Superior de Investigaciones Científicas (CSIC), Granada, Spain.
Gaétane NocturneUniversité Paris-Saclay, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1184, Le Kremlin Bicêtre, France.ORCID http://orcid.org/0000-0001-6809-0733
Katrine Brække NorheimDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Øyvind PalmDepartment of Rheumatology, University of Oslo, Oslo, Norway.
Kathrine SkarsteinDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Anna M StolarczykGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Kimberly E TaylorDepartment of Medicine, Russell/Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, California, USA.
Maria TeruelGenyo, Center for Genomics and Oncological Research, Pfizer/University of Granada/Andalusian Regional Government, Granada, Spain.ORCID http://orcid.org/0000-0002-5315-2660
Elke TheanderDepartment of Rheumatology, Skåne University Hospital, Malmö, Sweden.
Swamy VenuturupalliDivision of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Daniel J WallaceDivision of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Kiely M GrundahlGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Kimberly S HefnerHefner Eye Care and Optical Center, Oklahoma City, OK, USA.
Lida RadfarOral Diagnosis and Radiology Department, University of Oklahoma College of Dentistry, Oklahoma City, OK, USA.
David M LewisDepartment of Oral and Maxillofacial Pathology, University of Oklahoma College of Dentistry, Oklahoma City, OK, USA.
Donald U StoneDepartment of Ophthalmology, Dean McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
C Erick KaufmanDepartment of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Michael T BrennanDepartment of Oral Medicine/Oral & Maxillofacial Surgery, Atrium Health Carolinas Medical Center, Charlotte, NC, USA.
Joel M GuthridgeArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Judith A JamesArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.ORCID http://orcid.org/0000-0002-9574-7355
R Hal ScofieldArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Patrick M GaffneyGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Lindsey A CriswellDepartment of Medicine, Russell/Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, California, USA.ORCID http://orcid.org/0000-0002-0761-7543
Roland JonssonDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Per ErikssonDepartment of Biomedical and Clinical Sciences, Division of Inflammation and Infection, Linköping University, Linköping, Sweden.
Simon J BowmanRheumatology Department, University Hospital Birmingham NHS Foundation Trust, Birmingham, UK.
Roald OmdalDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Lars RönnblomDepartment of Medical Sciences, Rheumatology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0001-9403-6503
Blake WarnerSalivary Disorder Unit, National Institute of Dental and Craniofacial Research, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-4961-018X
Maureen RischmuellerRheumatology Department, The Queen Elizabeth Hospital, Woodville, South Australia.
Torsten WitteDepartment of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.
A Darise FarrisArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Xavier MarietteUniversité Paris-Saclay, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1184, Le Kremlin Bicêtre, France.ORCID http://orcid.org/0000-0002-4244-5417
Marta E Alarcon-RiquelmeGenyo, Center for Genomics and Oncological Research, Pfizer/University of Granada/Andalusian Regional Government, Granada, Spain.ORCID http://orcid.org/0000-0002-7632-4154
PRECISESADS Clinical Consortium
Caroline H ShiboskiDepartment of Orofacial Sciences, University of California San Francisco, San Francisco, CA, USA.
Sjögren’s International Collaborative Clinical Alliance (SICCA)
Marie Wahren-HerleniusDepartment of Clinical Science, University of Bergen, Bergen, Norway.ORCID http://orcid.org/0000-0002-0915-7245
Wan-Fai NgTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
UK Primary Sjögren’s Syndrome Registry
Kathy L SivilsArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
Indra AdriantoCenter for Bioinformatics, Department of Public Health Sciences, Henry Ford Health System, Detroit, MI, USA.ORCID http://orcid.org/0000-0002-9973-3057
Gunnel NordmarkDepartment of Medical Sciences, Rheumatology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0002-3829-7431
Christopher J LessardGenes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. chris-lessard@omrf.org.ORCID http://orcid.org/0000-0003-2440-3843

Funding

Targeting the p53 pathway for reversal of oral premalignancyP50CA097007 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI LEE, HO-YOUNG · 2002 to 2012
$26.1M
UT M.D. Anderson Cancer Center SPORE in MelanomaP50CA093459 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI GRIMM, ELIZABETH A · 2004 to 2014
$23.7M
Clinical Investigations of Sjogren's SyndromeZIADE000704 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI WARNER, BLAKE · 2009 to 2025
$22.3M
Pathogenic B Cells in Sjogren's SyndromeP50AR060804 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI MONTGOMERY, COURTNEY · 2011 to 2015
$7.9M
Creating a National Resource for Genetic Research in Behavioral & Health SciencesRC2AG036495 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WEIR, DAVID R. · 2009 to 2010
$7.4M
Genomic studies of Systemic Lupus ErythematosusZIAHG200416 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CRISWELL, LINDSEY · 2021 to 2025
$7.0M
Molecular Epidemiology of Head and Neck CancerR01ES011740 · NIEHS · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI WEI, QINGYI · 2001 to 2012
$6.3M
Expanding a National Resource for Genetic Research in Behavioral & Health ScienceRC4AG039029 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI WEIR, DAVID R. · 2010 to 2010
$6.0M
Discovery and Characterization of Genetic Risk Loci in Sjogren's SyndromeR01AR073855 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI LESSARD, CHRISTOPHER J · 2020 to 2024
$3.7M
Clinical Investigations Of Sjogren's SyndromeZ01DE000704 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI ILLEI, GABOR · 2002 to 2008
$3.0M
Specificity and Molecular Definition of Pathogenic Lymphocytes in Sjogren's SyndromeR01AR074310 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI FARRIS, A DARISE · 2018 to 2022
$2.7M
Functional Evaluation of Established Sjogren's Syndrome Immune Response LociR01AR065953 · NIAMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI LESSARD, CHRISTOPHER J · 2015 to 2018
$2.1M
BLRD VA I01 BX001451Department of HealthIntramural NIH HHS Z01 DE000704NCI NIH HHS P50 CA093459NCI NIH HHS P50 CA097007NCI NIH HHS R01 CA133996NHGRI NIH HHS HHSN268200782096CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008INIAMS NIH HHS P50 AR060804NIAMS NIH HHS R01 AR050782NIAMS NIH HHS R01 AR065953NIAMS NIH HHS R01 AR073855NIAMS NIH HHS R01 AR074310NIAMS NIH HHS R21 AR079089NIAMS NIH HHS R33 AR076803NIA NIH HHS RC2 AG036495NIA NIH HHS RC4 AG039029NIDCR NIH HHS N01 DE032636NIDCR NIH HHS R01 DE018209NIDCR NIH HHS R21 DE029303NIEHS NIH HHS R01 ES011740
6 · The paper itself

Abstract

Sjögren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.

Indexed as

Genome-Wide Association StudySjogren's SyndromeGenetic Predisposition to DiseaseHumansPolymorphism, Single Nucleotide

Identifiers

PMID35896530
PMCPMC9329286

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.